142
Views
1
CrossRef citations to date
0
Altmetric
ORIGINAL ARTICLE

Marked intrafamilial phenotypic variation in a family with SOD1 C111Y mutation

, , , , , , & show all
Pages 479-486 | Received 16 Oct 2011, Accepted 07 Jan 2012, Published online: 13 Mar 2012

References

  • Lowe J, Lennox G, Leigh PN. Disorders of movement and system degeneration. In: Graham DI, Lantos PL, editors. Greenfield's Neuropathology. 6th edn. Vol 2. London: Edward Arnold; 1992. pp 320–30.
  • Deng HX, Hentati A, Tainer JA, Iqbal Z, Cayabyab A, Hung WY, . Amyotrophic lateral sclerosis and structural defects in Cu/Zn superoxide dismutase. Science. 1993; 261:1047–51.
  • Rosen DR, Siddique T, Patterson D, Figlewicz DA, Sapp P, Hentati A, . Mutations in Cu/Zn superoxide dismutase gene are associated with familial amyotrophic lateral sclerosis. Nature. 1993;362:59–62.
  • ALS Online Genetic Database, ALSoD; http://alsod.iop.kcl.ac.uk
  • Cudkowicz ME, McKenna-Yasek D, Sapp PE, Chin W, Geller B, Hayden DL, . Epidemiology pf mutations in superoxide dismutase in amyotrophic lateral sclerosis. Ann Neurol. 1997;41:210–21.
  • Nakano T, Tsukada N, Yanagisawa N, Tsukagoshi H, Nakamura T. Familial motor neuron disease with cases of amyotrophic lateral sclerosis and spinal muscular atrophy. Clin Neurol (Tokyo). 1985;25:1119–25.
  • Eisen A, Mezei MM, Stewart HG, Fabros M, Gibson G, Andersen PM. SOD1 gene mutations in ALS patients from British Columbia, Canada: clinical features, neurophysiology and ethical issue in management. Amyotroph Lateral Scler. 2008;9:108–19.
  • Sumi H, Kato S, Mochimaru Y, Fujimura H, Etoh M, Sakoda S. Nuclear TAR DNA binding protein 43 expression in spinal cord neurons correlates with the clinical course in amyotrophic lateral sclerosis. J Neuropathol Exp Neurol. 2009;68:37–47.
  • de Carvallo M, Dengler R, Eisen A, England JD, Kaji R, Kimura J, . Electrodiagnostic criteria for diagnosis of ALS. Clin Neurophysiol. 2008;119:497–503.
  • Yulug IG, Katsanis N, de Belleroche J, Collinge J, Fisher EM. An improved protocol for analysis of SOD1 gene mutations, and a new mutation in exon 4. Hum Mol Genet. 1995;4:1101–4.
  • Ohi T, Saita K, Takeuchi S, Nabeshima K, Tashiro H, Shiomi K, . Clinical features and neuropathological findings of familial amyotrphic lateral sclerosis with a His46Arg mutation in Cu/Zn superoxide dismutase. J Neurol Sci. 2002;197:73–8.
  • Weber M, Neuwirth C, Thierbach J, Schweilkert K, Czaplinski A, Petersen J, ALS patients with SOD1 mutations in Switzerland show very diverse phenotypes and extremely long survival. J Neurol Neurosurg Psychiatry. 2012;83:351–3.
  • Meyer T, Schwan A, Dullinger JS, Brocke J, Hoffmann KT, Nolte CH, . Early-onset ALS with long-term survival associated with spastin gene mutation. Neurology. 2005; 65:141–3.
  • Leigh PN. Amyotrphic lateral sclerosis. In: Eisen AA, Shaw PJ, editors. Motor Neuron Disorders and Related Diseases, Handbook of Clinical Neurology. Vol. 82 (3rd series). Amsterdam: Elsevier BV; 2007: pp 252–7.
  • Ohi T, Nabeshima K, Kato S, Yazawa S, Takeuchi S. Familial amyotrophic lateral sclerosis with His-46Arg mutation in Cu/Zn superoxide dismutase presenting characteristic clinical features and Lewy body-like hyaline inclusions. J Neurol Sci. 2004;225:19–25.
  • Aoki M, Ogasawara M, Matsubara Y, Narisawa K, Nakamura S, Itoyama Y, . Familial amyotrophic lateral sclerosis (ALS) in Japan associated with H46R mutation in Cu/Zn superoxide dismutase gene: a possible new subtype of familial ALS. J Neurol Sci. 1994;126:77–83.
  • Abe K, Aoki M, Ikeda M, Watanabe M, Hirai S, Itoyama Y. Clinical characteristics of familial amyotrophic lateral sclerosis with Cu/Zn superoxide dismutase gene mutations. J Neurol Sci. 1996;136:108–16.
  • Syriani E, Morales M, Gamez J. The p.E22G mutation in the Cu/Zn superoxide dismutase gene predicts a long survival time: clinical and genetic characterization of a seven-generation ALS1 Spanish pedigree. J Neurol Sci. 2009; 285:46–53.
  • Gamez J, Corbera-Bellalta M, Nogales G, Ranguer N, Garcia-Arumi E, Badia-Canto M, . Mutation analysis of the Cu/Zn superoxide dismutase gene in a Catalan ALS population: should all sporadic ALS cases also be screened for SOD1? J Neurol Sci. 2006;247:21–8.
  • Regal L, Vanopdenbosch L, Tilkin P, van den Bosch L, Thijs V, Sciot R, . The G93C mutation superoxide dismutase 1: clinicopathologic phenotype and prognosis. Arch Neurol. 2006;63:262–7.
  • Restagno G, Lombardo F, Sbaiz L, Mari C, Cellera C, Alimonti D, Amyotoroph Lateral Scler. 2008;9:35–9.
  • Campbell MJ, Lane RJM, de Belleroche JS. The rare G93D mutation causes a slowly progressing lower motor neuron disease. Familial amyotrophic lateral sclerosis with a point mutation of SOD1: intrafamilial heterogeneity of disease duration associated with neurofibrillary tangles. J Neurol Neurosurg Psychiatry. 1995;59:266–70.
  • Orell RW, Habgood JJ, Malaspina A, Mitchell J, Greenwood J, Lane RJM, . Clinical characteristics of SOD1 gene mutation in UK families with ALS. J Neurol Sci. 1999;169: 56–60.
  • Banci L, Bertini I, Durazo A, Girotto S, Gralla EB, Martinelli M, . Metal-free superoxide dismutase forms soluble oligomers under physiological conditions: a possible general mechanism for familial ALS. Proc Natl Acad Sci USA. 2007;104:11263–7.
  • Cozzolino M, Amori I, Pesaresi MG, Ferri A, Nencini M, Carrí MT. Cysteine 111 affects aggregation and cytotoxicity of mutant Cu/Zn superoxide dismutase associated with familial amyotrophic lateral sclerosis. J Biol Chem. 2008; 283:866–74.
  • Niwa J, Yamada S, Ishigaki S, Sone J, Takahashi M, Katsuno M, . Disulfide bond mediates aggregation, toxicity, and ubiquitylation of familial amyotrophic lateral sclerosis-linked mutant SOD1. J Biol Chem. 2007; 282:28087–95.
  • Karch CM, Borchelt DR. A limited role for disulfide cross-linking in the aggregation of mutant SOD1 linked to familial amyotrophic lateral sclerosis. J Biol Chem. 2008;283: 13528–37.
  • Wang J, Slunt H, Gonzales V, Fromholt D, Coonfield M, Copeland NG, . Copper-binding-site-null SOD1 causes ALS in transgenic mice: aggregates of non-native SOD1 delineates a common feature. Hum Mol Genet. 2003;12: 2753–64.
  • Watanabe S, Nagano S, Duce J, Kiaei M, Li QX , Tucker SM, . Increased affinity for copper mediated by cysteine 111 in forms of mutant superoxide dismutase-1 linked to amyotrophic lateral sclerosis. Free Radic Biol Med. 2007; 42:1534–42.

Reprints and Corporate Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

To request a reprint or corporate permissions for this article, please click on the relevant link below:

Academic Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

Obtain permissions instantly via Rightslink by clicking on the button below:

If you are unable to obtain permissions via Rightslink, please complete and submit this Permissions form. For more information, please visit our Permissions help page.